Summary stats

General stats about the patient cohort

Stat Value
Unique HPO terms 62
Cohort size 27
Rejected patients by empty profile 0
HPOs per patient (average) 25.2593
HPO terms per patient: percentile 90 15
Percentage of HPO with more specific children 52.7859
DsI for uniq HP terms 0.2763502884111169
DsI for frequency weigthed HP terms 1.0666538670762538
Number of unknown phenotypes 0
Number of clusters with mutations accross > 1 chromosomes 0
Average variant size 51524.0
Nucleotides affected by mutations 51524
Number of genome windows 1
Mean patients per genome window 27.0
Number of genome window shared by >= 2 patients 1
Number of patients with at least 1 SOR 27
Nucleotides affected by mutations 51524

HPO stats

HPOs more frequent in the cohort

HPO Patient percentage
Cerebellar atrophy 100.0
Upslanted palpebral fissure 88.88888888888889
High, narrow palate 85.18518518518519
Strabismus 81.48148148148148
Narrow nasal bridge 74.07407407407408
Anteverted nares 74.07407407407408
Peripheral neuropathy 70.37037037037037
Hypertelorism 70.37037037037037
Wide mouth 70.37037037037037
Long fingers 70.37037037037037
Cone-shaped epiphyses of the phalanges of the hand 66.66666666666666
Long foot 66.66666666666666
Intention tremor 62.96296296296296
Limb dysmetria 62.96296296296296
Joint laxity 62.96296296296296
Lipodystrophy 62.96296296296296
Nystagmus 59.25925925925925
Long philtrum 59.25925925925925
Long face 55.55555555555556
Thin upper lip vermilion 55.55555555555556
Abnormality of the coagulation cascade 51.85185185185185
Prominent forehead 51.85185185185185
Inverted nipples 51.85185185185185
Pes planus 51.85185185185185
Pigmentary retinopathy 48.148148148148145
Scoliosis 48.148148148148145
Inability to walk 44.44444444444444
Almond-shaped palpebral fissure 40.74074074074074
Intellectual disability, mild 40.74074074074074
Stereotypy 40.74074074074074
Intellectual disability, moderate 37.03703703703704
Intellectual disability, severe 37.03703703703704
Failure to thrive in infancy 33.33333333333333
Epicanthus 33.33333333333333
Abnormality of the dentition 33.33333333333333
Hypogonadotropic hypogonadism 33.33333333333333
Mandibular prognathia 33.33333333333333
Autistic behavior 33.33333333333333
Protein-losing enteropathy 29.629629629629626
Low-set ears 25.925925925925924
Stroke-like episode 22.22222222222222
Retrognathia 22.22222222222222
Ataxia 22.22222222222222
Behavioral abnormality 18.51851851851852
Osteoporosis 18.51851851851852
Hypoglycemia 18.51851851851852
Attention deficit hyperactivity disorder 18.51851851851852
Osteopenia 18.51851851851852
Seizure 18.51851851851852
Coarse facial features 18.51851851851852
Cryptorchidism 18.51851851851852
Acute promyelocytic leukemia 14.814814814814813
Hirsutism 14.814814814814813
Prominent nose 14.814814814814813
Wide intermamillary distance 14.814814814814813
Abnormality of the pinna 14.814814814814813
Intellectual disability, borderline 11.11111111111111
Intellectual disability 7.4074074074074066
Macrotia 7.4074074074074066
Brain atrophy 3.7037037037037033
Lymphedema 3.7037037037037033
Pericardial effusion 3.7037037037037033

Cohort genome coverage analysis

Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.

Distribution of mutations

Distribution of all mutations along the genome (Length) and the number of patients that have at least one of them (Count). Second figure shows the same for SORs.

HPO annotations distribution

Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.

HPOs frequency distribution. Colour based on the HPO frequency.

Clustering patients by HPO profile

All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.

HPO profile redundancy

For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).

HPO ICs distribution

First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.

HPO frequency by cluster

Patient profiles heatmaps

For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.